Presence of two plasminogen alleles in normal populations.
When we compared nucleotide sequences of the 5'-flanking regions for plasminogen genes from 11 individuals, six substitutions were identified even among normal subjects. A new haplotype (termed allele II) was screened by PCR-RFLP analysis among 54 Japanese and 58 Caucasian normal subjects. The frequency of allele II was 0.787 in the Japanese and 0.560 in the Caucasians, indicating that the ratio of alleles differs between populations. Examination of 118 cases with dysplasminogenemia revealed that the Ala601-Thr mutation was present on allele I in most cases. This mutation was also associated with allele II in one-fourth of all cases, suggesting possible recombination within the plasminogen gene. Interestingly, we previously demonstrated that the expression activity of allele II was about 1.8 fold that of allele I in vitro.
Kida
M
M
Department of Molecular Pathological Biochemistry, Yamagata University School of Medicine, Japan.
H-Kawabata
M
M
Yamazaki
T
T
Ichinose
A
A
D000409:Alanine; D000483:Alleles; D019943:Amino Acid Substitution; D044466:Asian People / Q000235:genetics; D005820:Genetic Testing / Q000379:methods*; D015894:Genome, Human; D006801:Humans; D010375:Pedigree; D010958:Plasminogen / Q000235:genetics*; D017354:Point Mutation; D016133:Polymerase Chain Reaction / Q000379:methods; D012150:Polymorphism, Restriction Fragment Length; D012016:Reference Values; D017422:Sequence Analysis, DNA; D044465:White People / Q000235:genetics
D010958:Plasminogen; D000409:Alanine